Glycosylation and related congenital defects (WP4521)

Homo sapiens

Authors

Eveline Schoenmaker , Denise Slenter , Britt Pieters , Lauren J. Dupuis , Irene Hemel , Egon Willighagen , Friederike Ehrhart , Finterly Hu , and Eric Weitz

Activity

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Cited In

• DNA methylation of ARHGAP30 is negatively associated with ARHGAP30 expression in lung adenocarcinoma, which reduces tumor immunity and is detrimental to patient survival (2021).
• Human Monocytes Exposed to SARS-CoV-2 Display Features of Innate Immune Memory Producing High Levels of CXCL10 upon Restimulation (2023).

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Pathway Ontology

altered carbohydrate metabolic pathway N-acetylglucosamine, N-acetylmannosamine and N-acetylneuraminic acid dissimilation pathway disease pathway

Disease Ontology

autosomal recessive disease inherited metabolic disorder congenital disorder of glycosylation

References

1. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
2. Pitfalls in early diagnosis of oral epidermoid carcinoma. Dick HM, Strelioff MG, McMurchy KA. J Can Dent Assoc (Tor). 1970 Apr;36(4):151–4. PubMed Europe PMC Scholia
3. Glycosyltransferases involved in elongation of N-glycosidically linked oligosaccharides of the complex or N-acetyllactosamine type. Schachter H, Narasimhan S, Gleeson P, Vella G. Methods Enzymol. 1983;98:98–134. PubMed Europe PMC Scholia
4. The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Tan J, D’Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, et al. Eur J Biochem. 1995 Jul 15;231(2):317–28. PubMed Europe PMC Scholia
5. New phenotype of mutations deficient in glucosylation of the lipid-linked oligosaccharide: cloning of the ALG8 locus. Stagljar I, te Heesen S, Aebi M. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):5977–81. PubMed Europe PMC Scholia
6. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Tan J, Dunn J, Jaeken J, Schachter H. Am J Hum Genet. 1996 Oct;59(4):810–7. PubMed Europe PMC Scholia
7. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, et al. J Clin Invest. 1998 Apr 1;101(7):1414–20. PubMed Europe PMC Scholia
8. Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Matthijs G, Schollen E, Heykants L, Grünewald S. Mol Genet Metab. 1999 Oct;68(2):220–6. PubMed Europe PMC Scholia
9. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K. EMBO J. 1999 Dec 1;18(23):6816–22. PubMed Europe PMC Scholia
10. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, et al. Am J Hum Genet. 2000 Jun;66(6):1744–56. PubMed Europe PMC Scholia
11. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T. EMBO J. 2000 Jun 1;19(11):2475–82. PubMed Europe PMC Scholia
12. Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. Makridakis NM, di Salle E, Reichardt JK. Pharmacogenetics. 2000 Jul;10(5):407–13. PubMed Europe PMC Scholia
13. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. Watanabe R, Murakami Y, Marmor MD, Inoue N, Maeda Y, Hino J, et al. EMBO J. 2000 Aug 15;19(16):4402–11. PubMed Europe PMC Scholia
14. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, et al. Hum Mutat. 2000 Sep;16(3):247–52. PubMed Europe PMC Scholia
15. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, et al. Hum Mutat. 2000 Nov;16(5):386–94. PubMed Europe PMC Scholia
16. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, et al. J Med Genet. 2000 Nov;37(11):875–7. PubMed Europe PMC Scholia
17. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, et al. J Clin Invest. 2001 Dec;108(11):1613–9. PubMed Europe PMC Scholia
18. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. Hansske B, Thiel C, Lübke T, Hasilik M, Höning S, Peters V, et al. J Clin Invest. 2002 Mar;109(6):725–33. PubMed Europe PMC Scholia
19. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet T. Hum Mol Genet. 2002 Sep 15;11(19):2331–9. PubMed Europe PMC Scholia
20. A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, et al. J Biol Chem. 2003 Mar 14;278(11):9962–71. PubMed Europe PMC Scholia
21. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, et al. J Biol Chem. 2003 Jun 20;278(25):22498–505. PubMed Europe PMC Scholia
22. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, et al. Hum Mutat. 2003 Aug;22(2):144–50. PubMed Europe PMC Scholia
23. Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties. Kelleher DJ, Karaoglu D, Mandon EC, Gilmore R. Mol Cell. 2003 Jul;12(1):101–11. PubMed Europe PMC Scholia
24. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Schwarz M, Thiel C, Lübbehusen J, Dorland B, de Koning T, von Figura K, et al. Am J Hum Genet. 2004 Mar;74(3):472–81. PubMed Europe PMC Scholia
25. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, et al. Am J Hum Genet. 2004 Mar;74(3):545–51. PubMed Europe PMC Scholia
26. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T. Am J Hum Genet. 2004 Jul;75(1):146–50. PubMed Europe PMC Scholia
27. Accumulation of dolichol in older tissues satisfies the proposed criteria to be qualified a biomarker of aging. Parentini I, Cavallini G, Donati A, Gori Z, Bergamini E. J Gerontol A Biol Sci Med Sci. 2005 Jan;60(1):39–43. PubMed Europe PMC Scholia
28. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, et al. Am J Med Genet A. 2005 Jul 15;136(2):194–7. PubMed Europe PMC Scholia
29. ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis. Frank CG, Aebi M. Glycobiology. 2005 Nov;15(11):1156–63. PubMed Europe PMC Scholia
30. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. Gao XD, Tachikawa H, Sato T, Jigami Y, Dean N. J Biol Chem. 2005 Oct 28;280(43):36254–62. PubMed Europe PMC Scholia
31. In vitro evidence for the dual function of Alg2 and Alg11: essential mannosyltransferases in N-linked glycoprotein biosynthesis. O’Reilly MK, Zhang G, Imperiali B. Biochemistry. 2006 Aug 8;45(31):9593–603. PubMed Europe PMC Scholia
32. Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L. Ann Hum Genet. 2007 May;71(Pt 3):348–53. PubMed Europe PMC Scholia
33. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, et al. Am J Hum Genet. 2007 Mar;80(3):433–40. PubMed Europe PMC Scholia
34. Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. Uemura M, Tamura K, Chung S, Honma S, Okuyama A, Nakamura Y, et al. Cancer Sci. 2008 Jan;99(1):81–6. PubMed Europe PMC Scholia
35. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, et al. Am J Hum Genet. 2008 May;82(5):1158–64. PubMed Europe PMC Scholia
36. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, et al. Am J Hum Genet. 2008 May;82(5):1150–7. PubMed Europe PMC Scholia
37. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, et al. Am J Hum Genet. 2009 Jul;85(1):76–86. PubMed Europe PMC Scholia
38. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, et al. Hum Mol Genet. 2010 Apr 15;19(8):1413–24. PubMed Europe PMC Scholia
39. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, et al. Cell. 2010 Jul 23;142(2):203–17. PubMed Europe PMC Scholia
40. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Miller BS, Freeze HH, Hoffmann GF, Sarafoglou K. Mol Genet Metab. 2011 May;103(1):101–3. PubMed Europe PMC Scholia
41. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, et al. Mol Genet Metab. 2012 Apr;105(4):634–41. PubMed Europe PMC Scholia
42. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Piton A, Redin C, Mandel JL. Am J Hum Genet. 2013 Aug 8;93(2):368–83. PubMed Europe PMC Scholia
43. Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N-glycosylation. Mohorko E, Owen RL, Malojčić G, Brozzo MS, Aebi M, Glockshuber R. Structure. 2014 Apr 8;22(4):590–601. PubMed Europe PMC Scholia
44. Genetic defects in dolichol metabolism. Buczkowska A, Swiezewska E, Lefeber DJ. J Inherit Metab Dis. 2015 Jan;38(1):157–69. PubMed Europe PMC Scholia
45. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. Rush ET, Baker CV, Rizzo WB. Am J Med Genet A. 2017 Sep;173(9):2428–34. PubMed Europe PMC Scholia
46. The history and recent advances in research of polyprenol and its derivatives. Sagami H, Swiezewska E, Shidoji Y. Biosci Biotechnol Biochem. 2018 Jun;82(6):947–55. PubMed Europe PMC Scholia
47. GlcNAc-1-P-transferase-tunicamycin complex structure reveals basis for inhibition of N-glycosylation. Yoo J, Mashalidis EH, Kuk ACY, Yamamoto K, Kaeser B, Ichikawa S, et al. Nat Struct Mol Biol. 2018 Mar;25(3):217–24. PubMed Europe PMC Scholia
48. Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite. Kadirvelraj R, Yang JY, Sanders JH, Liu L, Ramiah A, Prabhakar PK, et al. Proc Natl Acad Sci U S A. 2018 May 1;115(18):4637–42. PubMed Europe PMC Scholia
49. The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes. Rodríguez Cruz PM, Palace J, Beeson D. Int J Mol Sci. 2018 Jun 5;19(6):1677. PubMed Europe PMC Scholia